Analysis of SLCO1B1 and ApoE genetic polymorphisms in patients of Han nationality with cardiovascular and cerebrovascular diseases from Anhui Province

Acta Universitatis Medicinalis Anhui     font:big middle small

Found programs: National Natural Science Foundation of China(No . 82072492) ; Natural Science Research Pro- ject of Anhui Educational Committee(No . 2022AH030117)

Authors:Li Jie1 , Cheng Xiaowen1 , Xu Xiang1 , Ha Chuanbo1 , Hu Wenjun1 , Tao Hui2

Keywords:SLCO1B1 ; ApoE ; genetic polymorphism; statins; Han nationality;cardiovascular and cerebrovascu- lar diseases

DOI:10.19405/j.cnki.issn1000-1492.2025.04.005

〔Abstract〕 Abstract Objective To investigate the distribution of solute carrier organic anion transporter family member 1B1 (SLCO1B1) and apolipoprotein E(ApoE) gene polymorphisms in the patients of Han nationality with cardiovascu- lar and cerebrovascular diseases from Anhui Province , in order to provide the basis for the individualized therapy of statins in clinical practice . Methods 924 Han patients with cardiovascular and cerebrovascular diseases were se- lected . The SLCO1B1 and ApoE genotypes of the patients were detected by polymerase chain reaction-fluorescent probe method , and their distribution was compared among different genders and other regions in China. Results Seven SLCO1B1 gene subtypes were detected in 924 patients , including * 1a/ * 1b (33 . 01% ) , * 1b/ * 1b (41 . 45% ) , *1b/ *15(12. 34% ) , *1a/ *1a(7 . 03% ) , *1a/ *15(5 . 52% ) , *15/ *15(0. 54% ) and * 5/ *5(0. 11% ) , without detection of the two gene subtypes of * 1a/ *5 and *5/ * 15 ; the normal metabolic genotype I of SLCO1B1( *1a/ *1 a , *1a/ *1b , *1b/ *1b) accounted for the highest proportion in this popu- lation(81 . 49% ) , the intermediate metabolic genotype II and the weak metabolic genotype III of SLCO1B1 accoun- ted for 17. 86% and 0. 65% respectively; six ApoE gene subtypes were detected , including E3/E3 (66. 78% ) , E3/E4(19. 37% ) , E2/E3(9. 63% ) , E4/E4( 1 . 84% ) , E2/E4 (1 . 73% ) and E2/E2(0. 65% ) ; the E3 mass genotype (E2/E4 , E3/E3) accounted for the highest proportion in this population (68 . 51% ) ; there was no sig- nificant difference in the distribution of SLCO1B1 and ApoE genes between different genders; there was no signifi- cant difference in the distribution of SLCO1B1 between the Han population from Anhui and the South China and Central China , but a significant difference was found between the Anhui Han population and the Southwest China ( P < 0. 05) ; the distribution of ApoE in the Anhui Han population demonstrated no statistically significant variation from those in South China and Southwest China , whereas significant differences were observed in comparison with Central China(P < 0. 05) . Conclusion In the Han population with cardiovascular and cerebrovascular diseases in Anhui , the distributions of SLCO1B1 and ApoE gene polymorphisms show no significant gender differences but ex- hibit regional variations . These populations are predominantly characterized by class I normal metabolic genotype (SLCO1B1) and E3 mass genotypes (ApoE) , indicating a higher tolerance to statin dosages and normal therapeu- tic efficacy in this cohort.